Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated. Methods. DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed. Results. We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn’s disease (CD)) and 60 healthy individuals as controls. The frequency of MEFV gene mutation was 26.7% ( n = 12 ) and 14.5% ( n = 8 ) for UC and CD, respectively. No relationship was found between MEFV gene mutation and the need for steroids, immunomodulators, and biologics ( p = 0.446 ; p = 0.708 ; p > 0.999 , resp.); however, in UC, the need for surgery in those with mutation ( p = 0.018 ) and E148Q mutation alone was significant ( p = 0.037 ). Conclusion. The rate of MEFV gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. MEFV mutation as a modifier factor of IBD should be considered.

Download Full-text

P105. Evaluating the frequency of MEFV gene mutation and its impact on the clinical course in patient with inflammatory bowel disease

Journal of Crohn s and Colitis ◽

10.1093/ecco-jcc/jju027.222 ◽

2015 ◽

Vol 9 (suppl 1) ◽

pp. S129-S129

Keyword(s):

Inflammatory Bowel Disease ◽

Gene Mutation ◽

Bowel Disease ◽

Clinical Course ◽

Mefv Gene ◽

Inflammatory Bowel ◽

Mefv Gene Mutation

Download Full-text

MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified

Digestion ◽

10.1159/000502640 ◽

2019 ◽

Vol 101 (6) ◽

pp. 785-793 ◽

Cited By ~ 2

Author(s):

Daisuke Saito ◽

Noritaka Hibi ◽

Ryo Ozaki ◽

Oki Kikuchi ◽

Taro Sato ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Gene Mutation ◽

Bowel Disease ◽

Periodic Fever ◽

Mefv Gene ◽

Clinical Manifestations ◽

Gene Mutations ◽

University Hospital ◽

Mucosal Inflammation ◽

Inflammatory Bowel

Background and Aims: Familial mediterranean fever (FMF), an autoinflammatory disease, is characterized by periodic fever and serositis. An MEFV gene mutation has been identified as the cause of FMF. Recently, patients with MEFV gene mutations and chronic gastrointestinal mucosal inflammation mimicking inflammatory bowel disease (IBD) have been reported. In this retrospective study, we analyzed the clinical characteristics of patients with IBD unclassified (IBDU) with MEFV gene mutations. Methods: MEFV gene analysis was performed on 8 patients with IBDU among 710 patients with IBD who had been treated at Kyorin University Hospital from April 2016 to December 2018. Clinical manifestations, endoscopic findings, and serological markers were also analyzed. Results: The average of the 8 patients with IBDU (3 men, 5 women) was 32.7 ± 6.4 years (range 26–76 years). Their symptoms comprised diarrhea (n = 8, 100%), hematochezia (n = 3, 37.5%), abdominal pain (n = 3, 37.5%), high fever (n = 2, 16.5%), and other periodic symptoms (n = 2, 16.5%). MEFV gene mutation was confirmed in 4/8 of these patients. Colonoscopy showed various mucosal lesions, rectal sparing, right side dominant colitis, pseudopolyposis, and granular protrusions. Colchicine was administered to 5 of the 8 patients (4 with and 1 without MEFV mutation) who were resistant to conventional treatment for ulcerative colitis. Clinical and endoscopic improvement was observed in all of 5 patients treated with colchicine. Conclusions: Some patients diagnosed as having IBDU have enterocolitis related to MEFV gene mutation and respond to colchicine therapy.

Download Full-text

The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy

European Journal of Pediatrics ◽

10.1007/s00431-007-0508-x ◽

2007 ◽

Vol 167 (4) ◽

pp. 391-393 ◽

Cited By ~ 26

Author(s):

Sinan Sari ◽

Odul Egritas ◽

Buket Dalgic

Keyword(s):

Inflammatory Bowel Disease ◽

Familial Mediterranean Fever ◽

Bowel Disease ◽

Mefv Gene ◽

Mediterranean Fever ◽

Inflammatory Bowel

Download Full-text

T1278 MEFV Gene Mutations and Inflammatory Bowel Disease: Is There Any Effect?

Gastroenterology ◽

10.1016/s0016-5085(08)62435-x ◽

2008 ◽

Vol 134 (4) ◽

pp. A-521-A-522

Author(s):

Filiz Akyuz ◽

Fatih Besisik ◽

Binnur Pinarbasi ◽

Kadir Demir ◽

Sabahattin Kaymakoglu ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Bowel Disease ◽

Mefv Gene ◽

Gene Mutations ◽

Inflammatory Bowel

Download Full-text

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

Molecular Biology Reports ◽

10.1007/s11033-020-06040-y ◽

2021 ◽

Vol 48 (3) ◽

pp. 2025-2033

Author(s):

Abdullah Arpacı ◽

Serdar Doğan ◽

Hazal Fatma Erdoğan ◽

Çiğdem El ◽

Sibel Elmacıoğlu Cura

Keyword(s):

Familial Mediterranean Fever ◽

Ethnic Groups ◽

Gene Mutation ◽

Mefv Gene ◽

Gene Mutations ◽

University Hospital ◽

New Mutation ◽

Exon 2 ◽

Mediterranean Fever ◽

Mefv Gene Mutation

AbstractFamilial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.

Download Full-text